Incidental Mutation 'R5733:Knop1'
| ID |
451539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Knop1
|
| Ensembl Gene |
ENSMUSG00000030980 |
| Gene Name |
lysine rich nucleolar protein 1 |
| Synonyms |
2310008H09Rik, Tsg118 |
| MMRRC Submission |
043193-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5733 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118441440-118454907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 118445305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 220
(G220C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033280]
[ENSMUST00000059390]
[ENSMUST00000063607]
[ENSMUST00000106549]
[ENSMUST00000106550]
[ENSMUST00000106552]
[ENSMUST00000116280]
[ENSMUST00000126792]
[ENSMUST00000106553]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000033277
AA Change: G90C
|
| SMART Domains |
Protein: ENSMUSP00000033277
Gene: ENSMUSG00000030980
AA Change: G90C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
401 |
413 |
1.29e-7 |
PROSPERO |
|
internal_repeat_1
|
417 |
429 |
1.29e-7 |
PROSPERO |
|
Pfam:SMAP
|
435 |
509 |
1.6e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033280
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059390
|
| SMART Domains |
Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063607
AA Change: G272C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068142
Gene: ENSMUSG00000030980
AA Change: G272C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
186 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
239 |
251 |
6.9e-7 |
PROSPERO |
|
internal_repeat_1
|
255 |
267 |
6.9e-7 |
PROSPERO |
|
Pfam:SMAP
|
273 |
347 |
3.7e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106549
AA Change: G220C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102159
Gene: ENSMUSG00000030980
AA Change: G220C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
134 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
187 |
199 |
1.42e-6 |
PROSPERO |
|
internal_repeat_1
|
203 |
215 |
1.42e-6 |
PROSPERO |
|
Pfam:SMAP
|
221 |
295 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000106550
AA Change: G434C
|
| SMART Domains |
Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980
AA Change: G434C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
186 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
216 |
228 |
4.11e-7 |
PROSPERO |
|
internal_repeat_1
|
232 |
244 |
4.11e-7 |
PROSPERO |
|
Pfam:SMAP
|
250 |
324 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106552
|
| SMART Domains |
Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000116280
AA Change: G434C
|
| SMART Domains |
Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980
AA Change: G434C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
401 |
413 |
1.29e-7 |
PROSPERO |
|
internal_repeat_1
|
417 |
429 |
1.29e-7 |
PROSPERO |
|
Pfam:SMAP
|
436 |
509 |
7e-18 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126792
AA Change: G249C
|
| SMART Domains |
Protein: ENSMUSP00000114727
Gene: ENSMUSG00000030980
AA Change: G249C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
186 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
216 |
228 |
4.11e-7 |
PROSPERO |
|
internal_repeat_1
|
232 |
244 |
4.11e-7 |
PROSPERO |
|
Pfam:SMAP
|
251 |
324 |
1.3e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106553
|
| SMART Domains |
Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
76 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
A |
5: 35,762,543 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,742,100 (GRCm39) |
Y657* |
probably null |
Het |
| Anxa3 |
T |
A |
5: 96,968,331 (GRCm39) |
I128N |
probably damaging |
Het |
| Bsnd |
T |
C |
4: 106,345,198 (GRCm39) |
T83A |
probably benign |
Het |
| Capn10 |
A |
G |
1: 92,871,635 (GRCm39) |
Y411C |
probably benign |
Het |
| Capn3 |
G |
A |
2: 120,315,075 (GRCm39) |
W201* |
probably null |
Het |
| Crtap |
T |
C |
9: 114,207,164 (GRCm39) |
T365A |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,992,272 (GRCm39) |
D329G |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,283,550 (GRCm39) |
L2761Q |
possibly damaging |
Het |
| Fcho2 |
A |
C |
13: 98,926,310 (GRCm39) |
V91G |
probably damaging |
Het |
| Fen1 |
A |
T |
19: 10,178,022 (GRCm39) |
C141S |
possibly damaging |
Het |
| Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,305,768 (GRCm39) |
R14S |
possibly damaging |
Het |
| Fzr1 |
A |
G |
10: 81,206,160 (GRCm39) |
F176L |
possibly damaging |
Het |
| Garem2 |
A |
G |
5: 30,321,336 (GRCm39) |
D565G |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,944,505 (GRCm39) |
S76T |
probably damaging |
Het |
| Iqca1 |
G |
T |
1: 89,998,257 (GRCm39) |
T549K |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,739,647 (GRCm39) |
S686R |
probably damaging |
Het |
| Lyzl1 |
T |
A |
18: 4,169,142 (GRCm39) |
C49S |
probably damaging |
Het |
| Mpzl1 |
A |
T |
1: 165,433,180 (GRCm39) |
I157K |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,202,261 (GRCm39) |
I155V |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,949,102 (GRCm39) |
M166V |
probably benign |
Het |
| Mvb12b |
T |
C |
2: 33,717,728 (GRCm39) |
T167A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,979,445 (GRCm39) |
N491S |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,787,128 (GRCm39) |
D511G |
possibly damaging |
Het |
| Or10ak8 |
C |
T |
4: 118,774,035 (GRCm39) |
V210I |
probably benign |
Het |
| Or11h4 |
T |
C |
14: 50,974,509 (GRCm39) |
T37A |
probably benign |
Het |
| Or6b1 |
C |
T |
6: 42,815,180 (GRCm39) |
R122C |
probably damaging |
Het |
| Or8k21 |
T |
G |
2: 86,145,558 (GRCm39) |
Q24P |
probably damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,671 (GRCm39) |
M476T |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,398,695 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
G |
A |
10: 58,321,658 (GRCm39) |
D2652N |
probably damaging |
Het |
| Rassf1 |
T |
C |
9: 107,435,213 (GRCm39) |
V166A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,812,585 (GRCm39) |
H907R |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,965,471 (GRCm39) |
E6G |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,182 (GRCm39) |
T15S |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,212,226 (GRCm39) |
L100P |
probably damaging |
Het |
| Sprr2k |
T |
C |
3: 92,340,655 (GRCm39) |
|
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,040,360 (GRCm39) |
S2431T |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
| Ttc21a |
G |
A |
9: 119,770,327 (GRCm39) |
V133I |
probably benign |
Het |
| Vasn |
T |
C |
16: 4,468,026 (GRCm39) |
Y658H |
possibly damaging |
Het |
| Zfp251 |
A |
G |
15: 76,754,527 (GRCm39) |
Y35H |
probably damaging |
Het |
|
| Other mutations in Knop1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Knop1
|
APN |
7 |
118,451,867 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL00840:Knop1
|
APN |
7 |
118,452,021 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01484:Knop1
|
APN |
7 |
118,452,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01608:Knop1
|
APN |
7 |
118,445,019 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03094:Knop1
|
APN |
7 |
118,452,374 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0147:Knop1
|
UTSW |
7 |
118,445,061 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0403:Knop1
|
UTSW |
7 |
118,452,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0421:Knop1
|
UTSW |
7 |
118,454,852 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1483:Knop1
|
UTSW |
7 |
118,452,273 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1513:Knop1
|
UTSW |
7 |
118,451,672 (GRCm39) |
unclassified |
probably benign |
|
|
R1541:Knop1
|
UTSW |
7 |
118,455,009 (GRCm39) |
unclassified |
probably benign |
|
|
R2366:Knop1
|
UTSW |
7 |
118,451,751 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2372:Knop1
|
UTSW |
7 |
118,452,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Knop1
|
UTSW |
7 |
118,455,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3001:Knop1
|
UTSW |
7 |
118,451,672 (GRCm39) |
unclassified |
probably benign |
|
|
R3002:Knop1
|
UTSW |
7 |
118,451,672 (GRCm39) |
unclassified |
probably benign |
|
|
R4723:Knop1
|
UTSW |
7 |
118,455,087 (GRCm39) |
unclassified |
probably benign |
|
|
R4916:Knop1
|
UTSW |
7 |
118,445,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5286:Knop1
|
UTSW |
7 |
118,454,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Knop1
|
UTSW |
7 |
118,452,495 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5950:Knop1
|
UTSW |
7 |
118,452,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6741:Knop1
|
UTSW |
7 |
118,445,061 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7654:Knop1
|
UTSW |
7 |
118,445,032 (GRCm39) |
missense |
unknown |
|
|
R7850:Knop1
|
UTSW |
7 |
118,449,860 (GRCm39) |
missense |
unknown |
|
|
R8192:Knop1
|
UTSW |
7 |
118,452,369 (GRCm39) |
missense |
|
|
|
R8857:Knop1
|
UTSW |
7 |
118,451,949 (GRCm39) |
missense |
|
|
|
R9482:Knop1
|
UTSW |
7 |
118,447,710 (GRCm39) |
missense |
unknown |
|
|
R9584:Knop1
|
UTSW |
7 |
118,447,709 (GRCm39) |
missense |
unknown |
|
|
R9728:Knop1
|
UTSW |
7 |
118,451,840 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATAGTCCTGCTGCAGACTC -3'
(R):5'- GTGCAGTGATATTTGTTAGAAGCC -3'
Sequencing Primer
(F):5'- ACGGGGACAGATGCTTAA -3'
(R):5'- CAATGATGGGCTCTCAGGCTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation